Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases

Table 1

Symptoms, laboratory data, and histopathology at presentation in six young patients with cryptogenic chronic cholestatic liver injury. ALP: alkaline phosphatase; TBA: total bile acids; γ-GT: gamma glutamyl transpeptidase; N: normal; LFT: liver function tests; N/A: not available; BRIC 2: benign recurrent intrahepatic cholestasis; sdPSC: small duct primary sclerosing cholangitis.

Patient	Sex/age	Symptoms	Serum chemistry (x ULN)						Histology
number			ALT	AST	ALP	γ-GT	Bilirubin	TBA
1	F/20	Fatigue, weight loss	4	N	6	5.6	N	6.5	Extended fibrosis, with bridging; fibrous septa, scarce inflammatory; activity, focal ductular reaction.
2	M/17	Hepatomegaly, abnormal LFT,; Crohn’s disease; portal hypertension	1.4	N	2.7	4.2	N	N/A	Chronic mild hepatitis with; minimal ductular reaction,; porto-portal fibrosis, possible cirrhosis.; No sdPSC features.
3	M/17	Hepatosplenomegaly, no symptoms	1.8	1.2	3.9	2.8	N	N/A	Liver cirrhosis, mild chronic; inflammation.
4	F/22	Hepatosplenomegaly, no symptoms	2	N	2.5	4.5	N	4	Chronic mild hepatitis, bridging; fibrosis; minimal ductular reaction.
5	M/19	Hepatosplenomegaly, no symptoms	2.8	N	1.4	7.1	N	6.6	Liver cirrhosis, mild inflammation,; ductular reaction.
6	F/22	Jaundice, pruritus	1.5	N	1.3	N	3	N/A	Extra- and intracellular; bilirubinostasis. Minimal; inflammatory activity, BRIC 2.